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Publications by L A Ficker
BIGH3 Mutation in a Bangladeshi Family With a Variable Phenotype of LCDI
Eye
Medicine
Arts
Sensory Systems
Ophthalmology
Humanities
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Heterozygous Glucokinase Splicing Mutation - Identical Genotype With Variable Phenotype in a Single Family
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A Missense Cystic Fibrosis Transmembrane Conductance Regulator Mutation With Variable Phenotype
Pediatrics
Child Health
Pediatrics
Perinatology
A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation
Journal of Alzheimer's Disease
Gerontology
Clinical Psychology
Mental Health
Psychiatry
Geriatrics
Medicine
Neuroscience
A Novel Mutation (A886g) in Exon 5 of FGFR2 in Members of a Family With Crouzon Phenotype and Plagiocephaly.
Journal of Medical Genetics
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Resistance to Thyroid Hormone in a Family of Bangladeshi Extraction
Endocrine Abstracts
Mutation p.R156H of KRT10 Responsible for Severe Phenotype of Epidermolytic Ichthyosis in a Chinese Family
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Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting With a Variable Scapuloperoneal Syndrome in a C.464G>A, p.Arg155His VCP Mutation
Case Reports in Genetics
Mutations in MAGT1 Lead to a Glycosylation Disorder With a Variable Phenotype
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Wolfram Syndrome in a Family With Variable Expression
Acta medica (Hradec Kralove)
Medicine
